Canonical Allele Identifier: CA688740749
Gene:

Linked Data

dbSNP Id: rs1413927908
gnomAD v3: 12-40373575-A-G
gnomAD v4: 12-40373575-A-G
MyVariant Identifiers: chr12:g.40767377A>G (hg19) chr12:g.40373575A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40373575A>G , CM000674.2:g.40373575A>G GRCh38
NC_000012.11:g.40767377A>G , CM000674.1:g.40767377A>G GRCh37
NC_000012.10:g.39053644A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_944868.1:n.485-18748T>C
XR_944869.1:n.485-1523T>C
XR_001749087.1:n.380-1523T>C
XR_001749088.1:n.347-1523T>C
XR_944868.2:n.485-18748T>C
XR_944869.2:n.485-1523T>C
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